Term Name: | congenital muscular dystrophy-dystroglycanopathy type A13 |
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Synonyms: | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13, MDDGA13, Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related, Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related |
Definition: | A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2. |
Ontology: | Human Disease [DOID:0111238] ( DOID:0111238 ) |